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European Journal of Human Genetics: EJHG

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https://www.readbyqxmd.com/read/28098151/juvenile-myelomonocytic-leukemia-associated-variants-are-associated-with-neo-natal-lethal-noonan-syndrome
#1
Heather Mason-Suares, Diana Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E Mullen, Matthew S Lebo
Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML. Studies comparing these variants suggest a stronger gain-of-function activity in the JMML variants. As JMML variants have not been identified as germline defects and have a greater impact on protein function, it has been speculated that they would be embryonic lethal...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28098150/a-survey-of-sub-saharan-gene-flow-into-the-mediterranean-at-risk-loci-for-coronary-artery-disease
#2
Miguel M Álvarez-Álvarez, Daniela Zanetti, Robert Carreras-Torres, Pedro Moral, Georgios Athanasiadis
This study tries to find detectable signals of gene flow of Sub-Saharan origin into the Mediterranean in four genomic regions previously associated with coronary artery disease. A total of 366 single-nucleotide polymorphisms were genotyped in 772 individuals from 10 Mediterranean countries. Population structure analyses were performed, in which a noticeable Sub-Saharan component was found in the studied samples. The overall percentage of this Sub-Saharan component presents differences between the two Mediterranean coasts...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28098149/characterising-private-and-shared-signatures-of-positive-selection-in-37-asian-populations
#3
Xuanyao Liu, Dongsheng Lu, Woei-Yuh Saw, Philip J Shaw, Pongsakorn Wangkumhang, Chumpol Ngamphiw, Suthat Fucharoen, Worachart Lert-Itthiporn, Kwanrutai Chin-Inmanu, Tran Nguyen Bich Chau, Katie Anders, Anuradhani Kasturiratne, H Janaka de Silva, Tomohiro Katsuya, Ryosuke Kimura, Toru Nabika, Takayoshi Ohkubo, Yasuharu Tabara, Fumihiko Takeuchi, Ken Yamamoto, Mitsuhiro Yokota, Dolikun Mamatyusupu, Wenjun Yang, Yeun-Jun Chung, Li Jin, Boon-Peng Hoh, Ananda R Wickremasinghe, RickTwee-Hee Ong, Chiea-Chuen Khor, Sarah J Dunstan, Cameron Simmons, Sissades Tongsima, Prapat Suriyaphol, Norihiro Kato, Shuhua Xu, Yik-Ying Teo
The Asian Diversity Project (ADP) assembled 37 cosmopolitan and ethnic minority populations in Asia that have been densely genotyped across over half a million markers to study patterns of genetic diversity and positive natural selection. We performed population structure analyses of the ADP populations and divided these populations into four major groups based on their genographic information. By applying a highly sensitive algorithm haploPS to locate genomic signatures of positive selection, 140 distinct genomic regions exhibiting evidence of positive selection in at least one population were identified...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28098148/clinical-utility-gene-card-for-non-syndromic-microphthalmia-including-next-generation-sequencing-based-approaches
#4
Rose Richardson, Jane Sowden, Christina Gerth-Kahlert, Anthony T Moore, Mariya Moosajee
No abstract text is available yet for this article.
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28074887/association-analysis-of-dyslexia-candidate-genes-in-a-dutch-longitudinal-sample
#5
Amaia Carrion-Castillo, Ben Maassen, Barbara Franke, Angelien Heister, Marlies Naber, Aryan van der Leij, Clyde Francks, Simon E Fisher
Dyslexia is a common specific learning disability with a substantive genetic component. Several candidate genes have been proposed to be implicated in dyslexia susceptibility, such as DYX1C1, ROBO1, KIAA0319, and DCDC2. Associations with variants in these genes have also been reported with a variety of psychometric measures tapping into the underlying processes that might be impaired in dyslexic people. In this study, we first conducted a literature review to select single nucleotide polymorphisms (SNPs) in dyslexia candidate genes that had been repeatedly implicated across studies...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#6
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051079/genome-wide-association-scan-of-neuropathic-pain-symptoms-post-total-joint-replacement-highlights-a-variant-in-the-protein-kinase-c-gene
#7
Sophie C Warner, Joyce Bj van Meurs, Dieuwke Schiphof, Sita M Bierma-Zeinstra, Albert Hofman, Andre G Uitterlinden, Helen Richardson, Wendy Jenkins, Michael Doherty, Ana M Valdes
Neuropathic pain-like joint symptoms (NP) are seen in a proportion of individuals diagnosed with osteoarthritis (OA) and post total joint replacement (TJR). In this study, we performed a genome-wide association study (GWAS) using NP as defined by the painDETECT questionnaire (score >12 indicating possible NP) in 613 post-TJR participants recruited from Nottinghamshire (UK). The prevalence of possible NP was 17.8%. The top four hits from the GWAS and two other biologically relevant single-nucleotide polymorphisms (SNPs) were replicated in individuals with OA and post TJR from an independent study in the same area (N=908) and in individuals from the Rotterdam Study (N=212)...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051078/clinical-utility-gene-card-for-cant%C3%A3%C2%BA-syndrome
#8
Edwin P Kirk, Ingrid Scurr, Gijs van Haaften, Mieke M van Haelst, Colin G Nichols, Maggie Williams, Sarah F Smithson, Dorothy K Grange
No abstract text is available yet for this article.
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051077/fig4-variants-in-central-european-patients-with-amyotrophic-lateral-sclerosis-a-whole-exome-and-targeted-sequencing-study
#9
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant inheritance and incomplete penetrance. Additionally, 200 central European ALS patients were analyzed using whole-exome or targeted sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051076/reply-to-walsh-et-al
#10
Tomoki Kawai, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Takahiro Yasumi, Ryuta Nishikomori, Shinya Okamoto, Toshio Heike
No abstract text is available yet for this article.
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051075/identification-and-population-history-of-cyp4v2-mutations-in-patients-with-bietti-crystalline-corneoretinal-dystrophy
#11
Xiaodong Jiao, Anren Li, Zi-Bing Jin, Xinjing Wang, Alessandro Iannaccone, Elias I Traboulsi, Michael B Gorin, Francesca Simonelli, J Fielding Hejtmancik
To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples from 58 unrelated patients with clinical diagnoses of BCD. Exons and flanking intronic regions of the CYP4V2 gene were dideoxy DNA sequenced. Nonpathogenic polymorphisms were excluded and known mutations were identified by sequencing 192 unaffected individuals from similar ethnic backgrounds and examination of online databases...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051074/recontacting-in-clinical-practice-an-investigation-of-the-views-of-healthcare-professionals-and-clinical-scientists-in-the-united-kingdom
#12
Daniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen, Susan E Kelly
This article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or responsibility to recontact former patients when the genetic information relevant to their health, or that of family members, changes in a potentially important manner. It is based on N=30 semi-structured interviews guided by vignettes of recontacting scenarios. The sample included healthcare professionals in the United Kingdom from different medical specialties (clinical genetics, other 'mainstream' specialties now offering genetic testing), and scientists from regional genetics laboratories...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051073/psychological-and-behavioural-impact-of-returning-personal-results-from-whole-genome-sequencing-the-healthseq-project
#13
Saskia C Sanderson, Michael D Linderman, Sabrina A Suckiel, Randi Zinberg, Melissa Wasserstein, Andrew Kasarskis, George A Diaz, Eric E Schadt
Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges. Understanding how individuals react psychologically and behaviourally will be key in assessing the potential utility of personal whole-genome sequencing. We conducted an exploratory longitudinal cohort study in which quantitative surveys and in-depth qualitative interviews were conducted before and after personal results were returned to individuals who underwent whole-genome sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051072/novel-homozygous-missense-variant-of-grin1-in-two-sibs-with-intellectual-disability-and-autistic-features-without-epilepsy
#14
Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville, Gaetan Lesca
We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We found a homozygous missense variation of GRIN1 (c.679G>C; p.(Asp227His)) in the two affected sibs, which was inherited from both unaffected heterozygous parents. Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051071/update-on-a-previously-reported-male-with-a-flna-missense-mutation
#15
Maie Walsh, Geoffrey Hebbard, Alison Trainer
No abstract text is available yet for this article.
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28051070/severe-neurodegenerative-disease-in-brothers-with-homozygous-mutation-in-polr1a
#16
Bülent Kara, Çiğdem Köroğlu, Karita Peltonen, Ruchama C Steinberg, Hülya Maraş Genç, Maarit Hölttä-Vuori, Ayşe Güven, Kristiina Kanerva, Tuğba Kotil, Seyhun Solakoğlu, You Zhou, Vesa M Olkkonen, Elina Ikonen, Marikki Laiho, Aslıhan Tolun
In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral atrophy, and leukodystrophy. Via linkage analysis and exome sequencing, we identified homozygous c.2801C>T (p.(Ser934Leu)) in POLR1A (encoding RPA194, largest subunit of RNA polymerase I) and c.511C>T (p.(Arg171Trp)) in OSBPL11 (encoding oxysterol-binding protein-like protein 11). Although in silico analysis, histopathologic evidence and functional verification indicated that both variants were deleterious, segregation with the patient phenotype established that the POLR1A defect underlies the disease, as a clinically unaffected sister also was homozygous for the OSBPL11 variant...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28029149/clinical-utility-gene-card-for-sitosterolaemia
#17
Amanda J Hooper, Damon A Bell, Robert A Hegele, John R Burnett
No abstract text is available yet for this article.
December 28, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28029148/investigating-mitochondrial-dna-relationships-in-neolithic-western-europe-through-serial-coalescent-simulations
#18
Maïté Rivollat, Stéphane Rottier, Christine Couture, Marie-Hélène Pemonge, Fanny Mendisco, Mark G Thomas, Marie-France Deguilloux, Pascale Gerbault
Recent ancient DNA studies on European Neolithic human populations have provided persuasive evidence of a major migration of farmers originating from the Aegean, accompanied by sporadic hunter-gatherer admixture into early Neolithic populations, but increasing toward the Late Neolithic. In this context, ancient mitochondrial DNA data collected from the Neolithic necropolis of Gurgy (Paris Basin, France), the largest mitochondrial DNA sample obtained from a single archeological site for the Early/Middle Neolithic period, indicate little differentiation from farmers associated to both the Danubian and Mediterranean Neolithic migration routes, as well as from Western European hunter-gatherers...
December 28, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28029147/snp-variants-at-the-map3k1-setd9-locus-5q11-2-associate-with-somatic-pik3ca-variants-in-breast-cancers
#19
Roberto Puzone, Ulrich Pfeffer
Genome-wide association studies have revealed many breast cancer (BC) risk-associated genetic variants that might functionally interact with other molecular determinants of BC. We analysed the association of 21 known risk-associated single-nucleotide variants (SNVs) with recurrent somatic variants in two cohorts of 77 and 754 oestrogen receptor α-positive BCs. Four SNVs located at 5q11.2 were found to be associated with the somatic PIK3CA variant status in the pilot cohort of 77 cases with odds ratio (OR) up to 6...
December 28, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28000702/fading-competency-of-cytogenetic-diagnostic-laboratories-the-alarm-bell-has-started-to-ring
#20
Ron Hochstenbach, Anna Slunga-Tallberg, Caroline Devlin, Giovanna Floridia, Marta Rodríguez de Alba, Shama Bhola, Katrina Rack, Ros Hastings
No abstract text is available yet for this article.
December 21, 2016: European Journal of Human Genetics: EJHG
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